Is FLNC p.Ser2415fs (c.7242_7246delinsAAACCTG) pathogenic?

FLNC p.Ser2415fs (c.72427246delinsAAACCTG) is classified Pathogenic in FLNC (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-15). Associated with Cardiovascular phenotype.

What condition is associated with FLNC p.Ser2415fs (c.7242_7246delinsAAACCTG)?

FLNC p.Ser2415fs (c.7242_7246delinsAAACCTG) is associated with Cardiovascular phenotype (ClinVar).

FLNC p.Ser2415fs

c.7242_7246delinsAAACCTG · VCV3850781

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 43 of 48
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.13	phastCons 0.46

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: FLNC
Protein: p.Ser2415fs
Coding: c.7242_7246delinsAAACCTG
MANE Select: NM_001458
Type: Indel
Location: chr7:128855305 (GRCh38)
Gene constraint: LOEUF 0.424 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 2415: the 'interaction with inppl1' region

Full FLNC gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FLNC p.Ser2415Asn Uncertain significance ★ same residue
FLNC p.Asp1086Val Uncertain significance ★★ same condition
FLNC p.Ser101Asn Uncertain significance ★★ same condition
FLNC p.Val884Leu Uncertain significance ★★ same condition
FLNC p.Cys665Ter Pathogenic ★ same condition
FLNC p.Val1407fs Pathogenic ★ same condition
FLNC c.699_699+4delinsTGGAAA Uncertain significance ★ same condition
FLNC p.Arg1352Cys Uncertain significance ★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/flnc-p-ser2415fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown